Linked Life Data

CPATH-4321

Source:http://cbio.mskcc.org/cpath#CPATH-4321

Statements in which the resource exists.
SubjectPredicateObjectContext
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cpath:CPATH-4321http://www.biopax.org/relea...Homeobox protein Hox-A1lld:biogrid
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cpath:CPATH-4321http://www.biopax.org/relea...Homeobox protein Hox-1Flld:biogrid
cpath:CPATH-4321http://www.biopax.org/relea...FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments. SUBCELLULAR LOCATION: Nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=3; Synonyms=36 kDa; IsoId=P49639-1; Sequence=Displayed; Name=1; Synonyms=14 kDa; IsoId=P49639-2; Sequence=VSP_002376, VSP_002377; Note=Lacks the homeobox domain; Name=2; Synonyms=24 kDa; IsoId=P49639-3; Sequence=VSP_002378, VSP_002379; Note=Lacks the homeobox domain; DISEASE: Defects in HOXA1 are the cause of Athabaskan brainstem dysgenesis syndrome (ABSD) [MIM:601536]; also known as Narvajo brainstem syndrome. This syndrome is characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. DISEASE: Defects in HOXA1 are the cause of Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]. Affected individuals show horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. In contrast to individuals with ABSD, central hypoventilation is not observed in individuals with BSAS. SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily. SIMILARITY: Contains 1 homeobox DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HOXA1"; GENE SYNONYMS: HOX1F. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biogrid
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